Gaucher DiseaseNCT02650219
Auto-antibodies Prevalence and CD1 Role in Gaucher Disease
An observational study of Gaucher Disease, run by Hospital St. Joseph, Marseille, France at 11 sites in France.
Trial summary
Hypergammaglobulinaemia is frequently observed in type 1 Gaucher disease (GD1), being either polyclonal or monoclonal gammopathies. Polyclonal hypergammaglobulinemia may be related to the presence of autoantibodies. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Gaucher Disease
- What is being tested?
- genetic analyses
- How many people
- 60 participants
- Where
- 11 sitesFrance
- Study dates
- Jan 2010to Dec 2015
- Phase
- Observational
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: 40 GD1 patients and 20 healthy volunteers (control group) were included in the study.
Who may be able to join
- Adult patients >= 18 years old
- Gaucher disease type 1, proved by low betaglucosidase, with or without treatment
- Patients must have read, understood and signed informed consent.
Who cannot join
- Under 18 years old
- Pregnant or breast-feeding
- Patients under administrative control
- Prisoners
- Patients without social rights
- Emergency hospitalization
Trial locations and contacts
11 sites in 1 country.
11 sites in 1 country
France11 sites
Internal Medicine Department, Hôpital Minjoz,
Besançon
Intensive Care Department, Hôpital Pellegrin,
Bordeaux
Internal Medicine Department, Hôpital Beaujon,
Clichy
Internal Medicine and Clinical Immunology Department, CHU,
Dijon
Internal Medicine Department, Catholic University,
Lille
Internal Medicine Department, CHU, Nantes
Nantes
Internal Medicine and Rheumatology Department, Hôpital La Croix Saint Simon,
Paris
Internal Medicine Department, CHU la Pitié Salpêtrière,
Paris
13 Internal Medicine Department, CHU,
Rouen
CHRU de Tours, Université François Rabelais, INSERM 1069,
Tours
Internal Medicine and Immunology Department, CHU Hôpital Brabois,
Vandœuvre-lès-Nancy
About this study
Official title: Prevalence of Autoantibodies in the Gaucher Disease and the Role of CD1 Molecules in Immune Manifestations of This Disease
Hypergammaglobulinaemia is frequently observed in type 1 Gaucher disease (GD1), being either polyclonal or monoclonal gammopathies. Polyclonal hypergammaglobulinemia may be related to the presence of autoantibodies. The clinical significance of such antibodies is questioned in Gaucher disease (GD), as some cases of immunologic thrombocytopenia and autoimmune hemolytic anemia have also been reported.
Objectives:
To evaluate the prevalence of autoantibodies and autoimmune diseases in GD1 patients, we conducted a multicenter national study. The investigators investigated whether there was a link between splenectomy, genotype, therapeutic options and the presence of these autoantibodies.They also investigated whether there was a correlation with some clinical manifestations of GD1
- Conditions
- Gaucher Disease
- Being tested
- genetic analyses
- Medical subject headings
- Gaucher Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
genetic analysesGenetic
| Study group | Role | What they receive |
|---|---|---|
| gaucher disease type 1 | Inclusion criteria:
* Adult patients >= 18 years old
* Gaucher disease type 1, proved by low betaglucosidase, with or without treatment
* Patients must have read, understood and signed informed consent. intervention : genetic analyses Receives: Genetic: genetic analyses | |
| Control | healthy subjects intervention: genetic analyses Receives: Genetic: genetic analyses |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Patients With GD Diagnosis Confirmed by : Enzyme Testing of acidβ-glucosidase Activity Activity <15% in Blood Leucocytes Completed When Necsssary by GB1 Mutation Analyses (Analyses From Samples)
acidβ-glucosidase enzyme testing : a lower than 15% of mean normal activity is considered to be diagnostic.
Decreased enzyme levels will often be confirmed by genetic testing. Numerous different mutations occur; GB1 mutation analyses is sometimes necessary to confirm the diagnosis.
Measured: baseline
Secondary outcomes (3)
Number of Patients With : Splenectomy and/or Bone Events and/or Pulmonary Hypertension and/or Specific Treatment and Non-specific (Medical History,Physiological Parameters and Questionnaire)
data available from medical record of the patients
Measured: Baseline
Number of Patients With : Photosensitivity and/or Raynaud Phenomenon and/or Sicca Syndrome and/or Arthralgia and/or Arthritis and/or Thrombosis (Medical History and Questionnaire)
Features usually associated with auto immune disease- data available from medical record of the patients
Measured: Baseline
Number of Patients With : Antinuclear and/or Anti-SSa and/or Anti-SSb and/or Anti-RNP and/or Anti-DNA and/or Anti-Sm and/or Anticardiolipid and/or Anti β2Gp1 and/or Antiganglioside Autoantibodies (Genetics Analyses From Blood Samples)
data available from biological analyses (blood samples)
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Jan 2016 (estimated)
- Study startJan 2010
- Primary completionDec 2015
- Study completionDec 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Gaucher DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 60 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hospital St. Joseph, Marseille, France
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Christine Serratrice, Hospital St. Joseph, Marseille, France
- Investigators
- Christine Serratrice, MD, Principal investigator, St joseph France
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02650219
- Sponsor's protocol ID
- ID-RCB 2010-A00315-3
- Status last verified
- Feb 2016
- First submitted
- 5 Jan 2016
- Last updated
- 23 Mar 2016
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 23 Mar 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prevalence of Autoantibodies in the Gaucher Disease and the Role of CD1 Molecules in Immune Manifestations of This Disease
- ClinicalTrials.gov ID
- NCT02650219
- Acronym / sponsor ID
- ID-RCB 2010-A00315-3
- Conditions
- Gaucher Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 60 participants (actual)
- Lead sponsor
- Hospital St. Joseph, Marseille, FranceUniversity, hospital or other
- Study start
- Jan 2010
- Primary completion
- Dec 2015 (actual)
- Study completion
- Dec 2015 (actual)
- First posted
- 8 Jan 2016 (estimated)
- Results
- Posted 8 Jan 2016
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Hypergammaglobulinaemia is frequently observed in type 1 Gaucher disease (GD1), being either polyclonal or monoclonal gammopathies. Polyclonal hypergammaglobulinemia may be related to the presence of autoantibodies. The clinical significance of such antibodies is questioned in Gaucher disease (GD), as some cases of immunologic thrombocytopenia and autoimmune hemolytic anemia have also been reported.
Objectives:
To evaluate the prevalence of autoantibodies and autoimmune diseases in GD1 patients, we conducted a multicenter national study. The investigators investigated whether there was a link between splenectomy, genotype, therapeutic options and the presence of these autoantibodies.They also investigated whether there was a correlation with some clinical manifestations of GD1
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| gaucher disease type 1 | – | Genetic: genetic analysesInclusion criteria: * Adult patients >= 18 years old * Gaucher disease type 1, proved by low betaglucosidase, with or without treatment * Patients must have read, understood and signed informed consent. intervention : genetic analyses |
| Control | – | Genetic: genetic analyseshealthy subjects intervention: genetic analyses |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- 40 GD1 patients and 20 healthy volunteers (control group) were included in the study.
Key inclusion criteria (3 listed)
- Adult patients >= 18 years old
- Gaucher disease type 1, proved by low betaglucosidase, with or without treatment
- Patients must have read, understood and signed informed consent.
Key exclusion criteria (6 listed)
- Under 18 years old
- Pregnant or breast-feeding
- Patients under administrative control
- Prisoners
- Patients without social rights
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| genetic analyses | Genetic | Control, gaucher disease type 1 |
Primary outcome
Number of Patients With GD Diagnosis Confirmed by : Enzyme Testing of acidβ-glucosidase Activity Activity <15% in Blood Leucocytes Completed When Necsssary by GB1 Mutation Analyses (Analyses From Samples)
Time frame: baseline
acidβ-glucosidase enzyme testing : a lower than 15% of mean normal activity is considered to be diagnostic. Decreased enzyme levels will often be confirmed by genetic testing. Numerous different mutations occur; GB1 mutation analyses is sometimes necessary to confirm the diagnosis.
3 secondary outcomes
Number of Patients With : Splenectomy and/or Bone Events and/or Pulmonary Hypertension and/or Specific Treatment and Non-specific (Medical History,Physiological Parameters and Questionnaire)
Time frame: Baseline
Number of Patients With : Photosensitivity and/or Raynaud Phenomenon and/or Sicca Syndrome and/or Arthralgia and/or Arthritis and/or Thrombosis (Medical History and Questionnaire)
Time frame: Baseline
Number of Patients With : Antinuclear and/or Anti-SSa and/or Anti-SSb and/or Anti-RNP and/or Anti-DNA and/or Anti-Sm and/or Anticardiolipid and/or Anti β2Gp1 and/or Antiganglioside Autoantibodies (Genetics Analyses From Blood Samples)
Time frame: baseline
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Mar 2016.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Individual participant dataSharing planned: No
Related trials for Gaucher Disease
Enrolling by invitationObservational study
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Phase 1/2 Clinical Trial of PR001 in Infants With Type 2 Gaucher Disease (PROVIDE)
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RecruitingObservational study
Parkinson's Disease in Type 1 Gaucher Disease
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Not yet recruitingPhase 2/3
Long-Term Safety and Tolerability of Nizubaglustat in Participants With Rare Lysosomal Disorders
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Christine Serratrice, MD principal investigator
St joseph France
11 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Gaucher Disease, run by Hospital St. Joseph, Marseille, France at 11 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 23 Mar 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 11 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Yes. Results are posted in the registry (first posted 8 Jan 2016). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Patients With GD Diagnosis Confirmed by : Enzyme Testing of acidβ-glucosidase Activity Activity <15% in Blood Leucocytes Completed When Necsssary by GB1 Mutation Analyses (Analyses From Samples) (time frame: baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Mar 2016.